Junction: Pompe Disease

Next-Generation Sequencing May Improve Diagnosis of Lysosomal Storage Diseases

A comprehensive and targeted next-generation sequencing (NGS) approach may help reduce delays in diagnosing lysosomal storage diseases (LSDs) including lysosomal acid lipase deficiency (LAL-D) and Pompe disease, according to a new article by Italian researchers. Published in the journal Gene, the article showed that a targeted NGS-based panel was able to identify a reference group…

Avalglucosidase Alfa-ngpt for Late-Onset Pompe Disease Approved in Canada

Avalglucosidase alfa-ngpt (Nexviazyme™) has been approved by Health Canada for the long-term treatment of late-onset Pompe disease (LOPD) in patients older than 6 months of age. “This approval is incredible news for patients and their families who are living with this debilitating disease and have limited options,” Brad Crittenden, executive director at the Canadian Association…

Understanding the Differential Diagnoses of Pompe Disease Can Improve Treatment

Researchers found the prevalence of late-onset Pompe disease (LOPD) in a cohort of patients from neuromuscular clinics to be around 1%, with an equivalent 1% prevalence of pseudodeficiency alleles, and the prevalence of genetic carriers for Pompe disease to be 1.9%. The findings of the multicenter study were published in Neurology Genetics. Among the 9…

Newly Developed Multiplex Network Could Improve Rare Disease Research

Researchers in Austria developed a multiplex network by mapping genes and their interactions on multiple levels, which can help better identify genetic defects and study their consequences.  To build the network, the team led by Jörg Menche, PhD, adjunct principal investigator at the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences…

Markers Identified to Assess Pompe Disease Clinical Deterioration

Oxygen uptake at the peak of exercise and the 6-Minute Walk Distance (6MWD) are more sensitive than other markers in assessing clinical deterioration and long-term response to treatment in patients with infantile-onset Pompe disease, according to a new study published in the Journal of Personalized Medicine. This is an important finding because it can be…

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